Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families
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Title
Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families
Authors
Keywords
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Journal
Scientific Reports
Volume 7, Issue 1, Pages -
Publisher
Springer Nature
Online
2017-07-12
DOI
10.1038/s41598-017-06033-1
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Note: Only part of the references are listed.- PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions
- (2016) Jaroslav Bendl et al. PLoS Computational Biology
- Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion
- (2015) Ines Quintela et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Whole Exome Sequencing in Females with Autism Implicates Novel and Candidate Genes
- (2015) Merlin Butler et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Excess of rare, inherited truncating mutations in autism
- (2015) Niklas Krumm et al. NATURE GENETICS
- Whole-genome sequencing of quartet families with autism spectrum disorder
- (2015) Ryan K C Yuen et al. NATURE MEDICINE
- Genetics and genomics of psychiatric disease
- (2015) D. H. Geschwind et al. SCIENCE
- Autism spectrum disorder model mice: Focus on copy number variation and epigenetics
- (2015) Nobuhiro Nakai et al. Science China-Life Sciences
- Genetic Variants of DICE1/INTS6 in German Prostate Cancer Families with Linkage to 13q14
- (2015) Malte B�hm et al. UROLOGIA INTERNATIONALIS
- Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases
- (2015) GENOME BIOLOGY
- A comprehensive meta-analysis of common genetic variants in autism spectrum conditions
- (2015) Varun Warrier et al. Molecular Autism
- Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins
- (2015) Donna M Werling et al. Molecular Autism
- Glycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology
- (2015) Jonathan J. Lyons et al. Frontiers in Pediatrics
- Dual-specificity phosphatases: critical regulators with diverse cellular targets
- (2015) Kate I. Patterson et al. BIOCHEMICAL JOURNAL
- Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth
- (2014) Claire C. Homan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- GPKOW is essential for pre-mRNA splicingin vitroand suppresses splicing defect caused by dominant-negative DHX16 mutationin vivo
- (2014) Shengbing Zang et al. BIOSCIENCE REPORTS
- A novel Netrin-1–sensitive mechanism promotes local SNARE-mediated exocytosis during axon branching
- (2014) Cortney C. Winkle et al. JOURNAL OF CELL BIOLOGY
- HSP70-binding protein HSPBP1 regulates chaperone expression at a posttranslational level and is essential for spermatogenesis
- (2014) Christian Rogon et al. MOLECULAR BIOLOGY OF THE CELL
- DNAJC13genetic variants in parkinsonism
- (2014) Emil K. Gustavsson et al. MOVEMENT DISORDERS
- Synaptic, transcriptional and chromatin genes disrupted in autism
- (2014) Silvia De Rubeis et al. NATURE
- The contribution of de novo coding mutations to autism spectrum disorder
- (2014) Ivan Iossifov et al. NATURE
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- MEK-ERK1/2-Dependent FLNA Overexpression Promotes Abnormal Dendritic Patterning in Tuberous Sclerosis Independent of mTOR
- (2014) Longbo Zhang et al. NEURON
- Genetic evidence that Celsr3 and Celsr2, together with Fzd3, regulate forebrain wiring in a Vangl-independent manner
- (2014) Y. Qu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism
- (2014) Dexter Hadley et al. Nature Communications
- Identification of Pathways for Bipolar Disorder
- (2014) John I. Nurnberger et al. JAMA Psychiatry
- Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
- (2013) Yong-hui Jiang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder
- (2013) Christopher S. Poultney et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection
- (2013) Emmanouil Athanasakis et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Association study of 83 candidate genes for bipolar disorder in chromosome 6q selected using an evidence-based prioritization algorithm
- (2013) T. Bernard Bigdeli et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- The Genetic Landscapes of Autism Spectrum Disorders
- (2013) Guillaume Huguet et al. Annual Review of Genomics and Human Genetics
- Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions
- (2013) G. Bradley Schaefer et al. GENETICS IN MEDICINE
- Human astrocytes express a novel NLRP2 inflammasome
- (2013) Julia Minkiewicz et al. GLIA
- A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene
- (2013) M. L. Kennerson et al. HUMAN MOLECULAR GENETICS
- DNAJC13 mutations in Parkinson disease
- (2013) Carles Vilariño-Güell et al. HUMAN MOLECULAR GENETICS
- Cry1 and Tef gene polymorphisms are associated with major depressive disorder in the Chinese population
- (2013) Ping Hua et al. JOURNAL OF AFFECTIVE DISORDERS
- Arborization of Dendrites by Developing Neocortical Neurons Is Dependent on Primary Cilia and Type 3 Adenylyl Cyclase
- (2013) S. M. Guadiana et al. JOURNAL OF NEUROSCIENCE
- Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations
- (2013) C Toma et al. MOLECULAR PSYCHIATRY
- Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
- (2013) Timothy W. Yu et al. NEURON
- Targeting cellular metabolism to improve cancer therapeutics
- (2013) Y Zhao et al. Cell Death & Disease
- The KCTD family of proteins: structure, function, disease relevance
- (2013) Zhepeng Liu et al. Cell and Bioscience
- Whole-genome sequencing in an autism multiplex family
- (2013) Lingling Shi et al. Molecular Autism
- A novel contiguous gene deletion ofAVPR2andARHGAP4genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability
- (2012) Lingli Huang et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation
- (2012) Jacob J. Michaelson et al. CELL
- Genetic architecture in autism spectrum disorder
- (2012) Bernie Devlin et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Patterns and rates of exonic de novo mutations in autism spectrum disorders
- (2012) Benjamin M. Neale et al. NATURE
- De novo mutations revealed by whole-exome sequencing are strongly associated with autism
- (2012) Stephan J. Sanders et al. NATURE
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
- (2012) Brian J. O’Roak et al. NATURE
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- Sonic Hedgehog, BOC, and Synaptic Development: New Players for an Old Game
- (2012) Julien Courchet et al. NEURON
- De Novo Gene Disruptions in Children on the Autistic Spectrum
- (2012) Ivan Iossifov et al. NEURON
- SIFT web server: predicting effects of amino acid substitutions on proteins
- (2012) Ngak-Leng Sim et al. NUCLEIC ACIDS RESEARCH
- Heteromerization of Ciliary G Protein-Coupled Receptors in the Mouse Brain
- (2012) Jill A. Green et al. PLoS One
- Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis
- (2012) G. Zanni et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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- (2012) E. Y. Hsiao et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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- (2012) Marie-Odile Guimond et al. International Journal of Hypertension
- Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability
- (2011) Muhammad Arshad Rafiq et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: A systematic review and meta-analysis
- (2011) Kyle M Walsh et al. GENETICS IN MEDICINE
- Autism spectrum disorders—A genetics review
- (2011) Judith H Miles GENETICS IN MEDICINE
- Activation and Function of the MAPKs and Their Substrates, the MAPK-Activated Protein Kinases
- (2011) M. Cargnello et al. MICROBIOLOGY AND MOLECULAR BIOLOGY REVIEWS
- Rare structural variation of synapse and neurotransmission genes in autism
- (2011) X Gai et al. MOLECULAR PSYCHIATRY
- Deep sequencing reveals 50 novel genes for recessive cognitive disorders
- (2011) Hossein Najmabadi et al. NATURE
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
- (2011) Brian J O'Roak et al. NATURE GENETICS
- Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders
- (2011) Dan Levy et al. NEURON
- Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
- (2011) Stephan J. Sanders et al. NEURON
- AutismKB: an evidence-based knowledgebase of autism genetics
- (2011) Li-Ming Xu et al. NUCLEIC ACIDS RESEARCH
- Identification of Tat-SF1 cellular targets by exon array analysis reveals dual roles in transcription and splicing
- (2011) H. B. Miller et al. RNA
- Robust relationship inference in genome-wide association studies
- (2010) Ani Manichaikul et al. BIOINFORMATICS
- CEP152 is a genome maintenance protein disrupted in Seckel syndrome
- (2010) Ersan Kalay et al. NATURE GENETICS
- Common SNPs explain a large proportion of the heritability for human height
- (2010) Jian Yang et al. NATURE GENETICS
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- Myelination and the trophic support of long axons
- (2010) Klaus-Armin Nave NATURE REVIEWS NEUROSCIENCE
- Differential Association of Circadian Genes with Mood Disorders: CRY1 and NPAS2 are Associated with Unipolar Major Depression and CLOCK and VIP with Bipolar Disorder
- (2010) Virginia Soria et al. NEUROPSYCHOPHARMACOLOGY
- Circadian clock genes: Non-circadian roles in sleep, addiction, and psychiatric disorders?
- (2010) Alan M. Rosenwasser NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
- Consanguinity and major genetic disorders in Saudi children : A community-based cross-sectional study
- (2009) MohammadI El Mouzan et al. ANNALS OF SAUDI MEDICINE
- INTS6/DICE1 inhibits growth of human androgen-independent prostate cancer cells by altering the cell cycle profile and Wnt signaling
- (2009) Stephanie Filleur et al. Cancer Cell International
- Consanguinity, human evolution, and complex diseases
- (2009) A. H. Bittles et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)
- (2009) Esther Meyer et al. PLoS Genetics
- Structural Variation of Chromosomes in Autism Spectrum Disorder
- (2008) Christian R. Marshall et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder
- (2008) Susan L. Christian et al. BIOLOGICAL PSYCHIATRY
- Frequent expression loss of Inter-alpha-trypsin inhibitor heavy chain (ITIH) genes in multiple human solid tumors: A systematic expression analysis
- (2008) Alexander Hamm et al. BMC CANCER
- The Histone Demethylase KDM5b/JARID1b Plays a Role in Cell Fate Decisions by Blocking Terminal Differentiation
- (2008) B. K. Dey et al. MOLECULAR AND CELLULAR BIOLOGY
- Association between Microdeletion and Microduplication at 16p11.2 and Autism
- (2008) Lauren A. Weiss et al. NEW ENGLAND JOURNAL OF MEDICINE
- AutDB: a gene reference resource for autism research
- (2008) Saumyendra N. Basu et al. NUCLEIC ACIDS RESEARCH
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